Carpenter syndrome
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Carpenter syndrome, also calledacrocephalopolysyndactyly type type II (ACPS type II) is an extremely rare autosomal recessive congenital autosomal recessive congenital disorder.
Clinical spectrum
It is characterized by a number of features which include:
- craniofacial
malformationsmalformations- craniosynostoses
- kleeblattschädel (cloverleaf skull)
- obesity
- umbilical herniation
- hypogenitalism
- cryptorchidism
-
mental retardationintellectual disability - limb anomalies
- genu valgum +/- lateral patella displacement
- coxa valga
- pes varus
- syndactyly: typically soft tissue3
- polydactyly: typically pre axial3
double ossification center of proximal phalanx of thumb
broad first metatarsal
History and etymology
It was first described by G Carpenter in 1909 2.
See also
-<p><strong>Carpenter syndrome</strong>, also called <strong>acrocephalopolysyndactyly type II</strong> <strong>(ACPS type II)</strong> is an extremely rare autosomal recessive congenital disorder </p><h4>Clinical spectrum</h4><p>It is characterized by number of features which include:</p><ul>-<li>craniofacial malformations<ul>- +<p><strong>Carpenter syndrome</strong>, also called <strong>acrocephalopolysyndactyly type II</strong> <strong>(ACPS type II)</strong> is an extremely rare autosomal recessive congenital disorder.</p><h4>Clinical spectrum</h4><p>It is characterized by a number of features which include:</p><ul>
- +<li>craniofacial malformations<ul>
-<a href="/articles/cloverleaf-skull">kleeblattschädel</a> (cloverleaf skull)</li>- +<a href="/articles/cloverleaf-skull-craniosynostosis">kleeblattschädel</a> (cloverleaf skull)</li>
-<li>mental retardation</li>- +<li>intellectual disability</li>
-<a href="/articles/syndactyly">syndactyly</a>: typically soft tissue <sup>3</sup>- +<a href="/articles/syndactyly">syndactyly</a>: typically soft tissue <sup>3</sup>
-<a href="/articles/polydactyly">polydactyly</a>: typically pre axial <sup>3</sup>- +<a href="/articles/polydactyly">polydactyly</a>: typically pre axial <sup>3</sup>
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